Nehir Edibe Kurtas

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano et al. · The American Journal of Human Genetics · 2023 · 50 citations · Full text

Autistic Woman, Medicine, Genetics +12

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh et al. · Nature Communications · 2022 · 45 citations · Full text

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli et al. · Human Mutation · 2018 · 41 citations · Full text

Chromatin, Developmental Biology, Trisomy Rescue +14

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

David Pellerin, Giulia Gobbo, Madeline Couse et al. · Nature Genetics · 2024 · 31 citations · Full text

Enhanced Stability, Common Flanking Variant, Allelic Variant +10

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

Nehir Edibe Kurtas, Filippo Arrigoni, Edoardo Errichiello et al. · Journal of Medical Genetics · 2018 · 30 citations · Full text